A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756827



Internal ID9819822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:156415760..156416023hg38UCSC Ensembl
Outerchr2:157272272..157272535hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721008
Supporting Variants
SamplesSSM059
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6756827
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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